Newborn screening

did you know

All Australian states and territories regularly review information from other parts of the world to make sure their screens are kept up to date. Any new screens are trialled to make sure they’re accurate and useful for people living in Australia.

In those first hours and days of life, you’ll be offered newborn screening for your baby, as well as some other tests. If everything’s OK, you’ll feel reassured. If something unusual shows up, your doctors can assess what, if anything, needs to be done.

About newborn screening

Most newborns are born healthy. A very small minority, however, have disorders or illnesses that might not be obvious at birth.

Newborn screening doesn’t diagnose illnesses – it just tells you whether your newborn needs more tests to rule out serious conditions. Screening can pick up signs of more than 30 congenital disorders.

Newborn screening helps doctors identify rare conditions before a baby’s symptoms are obvious – and before the baby develops permanent disability or an irreversible disease.

You might hear newborn screening called the heel prick test or Guthrie test.

Newborn screening is your choice. It involves a blood test for your baby, which some parents aren’t keen on. But if you’re worried, you could weigh up the quick experience of discomfort against the knowledge that your child will be safer from illness if you take advantage of the screening.

Why newborn screening is done

Newborn screening is done to detect rare genetic and/or metabolic disorders. If these conditions are identified early, they can be treated early. Early treatment can reduce the effects of these conditions.

You can ask your nurse or midwife exactly what conditions the heel prick test will screen.

There are some conditions and disorders that newborn screening doesn’t cover. Let your doctor or nurse know if you have a family history of any disorders or conditions.

Newborn screening: what to expect

Newborn screening is done when your baby is 48-72 hours old. Your doctor or midwife will ask for your permission to do the test. In some states they ask you to sign a consent form before the test.

You and your baby might be taken to a quiet room, where your baby’s heel will be pricked. A few drops of his blood will be collected on special filter paper. If you’re worried about this causing him pain, you could try breastfeeding him while the test happens – this could comfort him.

The filter paper is left to dry, then sent to a screening laboratory where the sample is tested for different conditions.

If you plan on leaving hospital early, arrange your baby’s heel prick test before you go. This might mean a midwife will visit you at home, or you might have to take your baby back to hospital.

Newborn screening results

Usually you’ll be told about your baby’s test results only if there’s a problem.

If your baby’s results are normal, they’ll usually be mailed to your midwife or the centre where your baby was born about two weeks after the test.

If your baby’s results aren’t normal, you’ll be told straight away and also told what to do next.

Follow-up tests

Your hospital or midwife will contact you if there are any concerns with the test results, but this doesn’t always mean your baby has a problem. Only a few babies need to have more tests, and follow-up tests usually happen because the first test didn’t give a clear result.

If your baby’s test results aren’t normal, your doctor or midwife will usually ask for your permission to do extra tests. They might also ask you to consider treatment for your baby if necessary. If you’re asked for a repeat test, it’s important to take your baby for testing as soon as possible.

More information about newborn screening

Although the heel prick test checks for rare conditions, children in families with no history of health problems still have a small level of risk. In fact, most children with these disorders come from families with no previous history of the condition.

In Australia, the National Pathology Accreditation Advisory Council requires all blood samples to be stored in a secure location for a minimum of two years. These blood samples might be used at a future time to help with treatment for your child or health research. Any use of identified information from the blood sample card requires your child’s consent (if your child is old enough) or your consent.

If you have any questions about newborn screening tests, talk to your midwife, obstetrician or birthing room staff. Prenatal classes are also a great opportunity to ask questions.

Developmental dysplasia of the hip (DDH) test

A doctor will usually check for DDH straight after birth or in a newborn’s first few days. The test is repeated at six weeks.

The doctor will put your baby on her back and move her legs while feeling and listening to each hip for signs of dislocation, such as a ‘click’ or ‘clunk’ sound. Sometimes doctors might also use an X-ray or ultrasound.

Note: DDH was previously called congenital dislocation of the hip (CDH).

Hearing screen

All Australian states and territories have a universal newborn hearing screening program that aims to:

screen the hearing of all babies by one month of age

refer any babies with possible hearing impairment for diagnostic testing with an audiologist by three months of age

start early intervention for those babies with hearing loss by six months of age.

Mahan, S., Katz, J., & Kim, Y. (2009). To screen or not to screen? A decision analysis of the utility of screening for developmental dysplasia of the hip. Journal of Bone and Joint Surgery (American), 91(7), 1705-1719.

Muchamore, I., Morphett, L., & Barlow-Stewart, K. (2006). Exploring existing and deliberated community perspectives of newborn screening: Informing the development of state and national policy standards in newborn screening and the use of dried blood spots. Australia and New Zealand Health Policy, 3(1), 14.

National Pathology Accreditation Advisory Council (2013). Requirements for the retention of laboratory records and diagnostic material (6th edn). Canberra: Australian Government Department of Health.